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Each week, Live Science spotlights a captivating report from the world of medicine, where we delve into peculiar indications, rarely encountered diagnoses, and innovative treatments. Through this “Diagnostic Challenge” series, we illustrate how physicians endeavor to ascertain the underlying reasons for a patient’s infirmity. In complicated instances, this diagnostic journey can be rather laborious. That’s among the reasons doctors publish case studies: to aid other medical experts who may be confronting a similar conundrum.
Below are 12 of our most fascinating Diagnostic Challenges from the preceding year. (If portrayals of medical conditions and procedures make you uneasy, proceed at your own discretion.)
1. Teenager spoke in a foreign language following his operation
A Dutch youngster underwent surgery on his knee to remedy a sports injury; upon emerging from the anesthesia, he exclusively spoke English — a language he had previously only encountered in language courses at school. He persisted in claiming he was located in the U.S., failed to identify his relatives, and was unable to articulate or process spoken Dutch, his maternal tongue. Assessments showed no indications of neurological anomalies, and the physicians opted against commencing any particular therapy to resolve the language problem. Within 18 hours post-operation, the youth was able to comprehend some Dutch, although struggled to speak it. Yet abruptly, he regained the capacity to both understand and articulate it typically. The doctors characterized the episode as an odd instance of “foreign language syndrome.”
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A woman manifested XY chromosomes of her fraternal sibling — exclusively in her bloodstream
2. Woman lacking a vaginal aperture becomes gravid through oral copulation
A young woman presented at a healthcare facility with abdominal discomfort, which subsequent examinations revealed to be a nine-month gestation and the presence of contractions. Upon evaluating the patient’s reproductive system, clinicians detected the absence of a vaginal aperture — an uncommon ailment known as distal vaginal atresia. Consequently, the medical personnel were compelled to deliver the infant — a robust, 6.2-pound (2.8 kilograms) boy — via a cesarean procedure. The teenager had been previously assessed at the same hospital approximately nine months earlier, after an ex-boyfriend stabbed her subsequent to discovering her performing fellatio on a new partner. The injuries sustained during the stabbing event probably enabled sperm to exit her alimentary system and navigate toward her reproductive system, culminating in an improbable pregnancy, according to the doctors’ conjectures.
3. Individual impaled by a massive marine creature
An individual was transported to the hospital via boat and air transport due to a fishing-related injury. He had captured a white marlin (Kajikia albida) — an immense aquatic animal characterized by an elongated, pointed “bill” — and when he reached across the edge of his vessel to liberate his hook from the fish, it sprang upwards and collided with him. Upon arrival at the medical center, physicians identified a fragment of the fish’s rostrum embedded within the man’s pharynx, spinal conduit, and cranial base. Through immediate surgical intervention and the application of antibiotics to forestall infections, the man endured the incident without suffering enduring repercussions.
4. Joint injury induced by acupuncture
An X-ray image of the frontal (A) and lateral (B) aspects of the patient’s left knee. The thin lines indicate the minute gold sutures. (Image credit: The New England Journal of Medicine ©2013.)
A female afflicted with knee osteoarthritis initiated a regimen of frequent acupuncture treatments when her pain relievers instigated adverse stomach complications. Progressively, her knees underwent substantial tenderness, precipitating an examination at a medical facility. Radiological evaluations unveiled areas of the joints and shinbones displaying thickened bone matter and the development of bony growths. In conjunction, a plethora of minuscule specks were discernible surrounding both knee articulations. It was eventually discovered that the woman’s acupuncturists had intentionally deposited gold filaments within her knees as an integral component of her treatment protocol. These filaments, in disparate occurrences, have prompted cysts and tissue compromise, which can potentially arise upon dispersion across the organism.
5. Individual encountered an atypical meat sensitivity
A male residing in Michigan presented at an urgent care clinic with distended eyelids and an itchy exanthem, additionally observing that he had been subject to spasms, nausea, stomach pain, and emesis across the preceding days. Upon assessing the patient, physicians deduced indications of anaphylaxis, an extreme allergic manifestation, with his state promptly regressing to shock. The medical personnel efficaciously stabilized the patient; nonetheless, his condition deteriorated once more several days later. By this stage, the clinicians identified a trend: The aforementioned symptoms manifested in response to the consumption of crimson meat. A meat sensitivity, medically denoted as alpha-gal syndrome, may be instigated via the sting of particular tick classifications. Eventually, the male was identified as an enthusiastic deer hunter who had seemingly been exposed to a mature tick or tick larvae amid his hunting expeditions, as concluded by the medical personnel.
6. Woman possessed XY chromosomes within her blood composition
Following a pregnancy loss, a woman’s chromosomes were examined to identify the potential for an underlying genetic etiological factor related to the miscarriage. The outcomes of the examination manifested that, at a minimum, within the woman’s blood, her chromosomal configuration (or karyotype) registered as 46,XY — the archetypal karyotype identified amongst the male population. Further analyses disclosed that, across the expanse of her other tissues, her karyotype was denoted as 46,XX, an archetypal chromosomal blueprint within females. The woman possessed a fraternal twin; subsequently, in the context of this “chimerism,” the medical experts inferred that the XY chromosomes likely originated from her sibling within the womb, yet somehow amalgamated solely with her blood constituents. Physicians hypothesized that the “veins and arteries of the two children became intertwined in the umbilical cord” at some juncture. The woman did not display overt symptomatic indications correlated with harboring these chromosomes within her bloodstream and proceeded to experience a subsequent pregnancy that resulted in the parturition of a male offspring.
7. Woman injected herself with cobra venom of the black widow
An individual arrived at an emergency department displaying a headache, acute cramps and myalgia, in addition to an elevated pulse rate, respiratory rate, and blood pressure. She recounted to physicians that she had made an attempt to achieve euphoria via the intravenous administration of a pulverized black widow arachnid (Latrodectus) suspended in distilled water. Medical personnel suspected that the intravenous dose of black-widow venom presumably superseded that which would typically be administered through a bite, with the impacts possibly intensified through an allergic response to the proteins encompassed within the venom. Following several days of medical intervention in an intensive care unit, the patient’s symptomatic presentations abated, and she was released from the facility.
8. Nut sensitivity activated through seminal fluid
A female displayed hives, subcutaneous edema, and respiratory compromise succeeding sexual activity with her partner. During medical management at a healthcare facility, she divulged a known allergy to Brazil nuts. She asserted that her partner had consumed them several hours antecedent to intercourse but had sanitized himself via bathing and rigorous hand-washing prior to the sexual encounter. When medical experts performed a cutaneous prick assessment utilizing seminal fluid samples collected prior and subsequent to the partner’s ingestion of Brazil nuts, their findings verified that the allergy activators were indeed capable of transmission through the seminal fluid and activating the woman’s allergic manifestation.
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9. An eruption inexplicably wandered
Medical experts found a man’s scarlet eruption seeming to “migrate” through his cutaneous layer.
Ensuing cancer treatment, an individual manifested a scarlet eruption that commenced proximate to the anus and expanded expeditiously toward the trunk and limbs. The eruption, which resembled wavy striations dispersed throughout the patient’s anatomy, presented as if it were in motion, with initial presence in a singular location prior to subsequent migration through the cutaneous layer. Examination of a stool specimen uncovered Strongyloides stercoralis, a parasitic organism that can potentially trigger an infection termed strongyloidiasis among humans. The individual’s immune defenses, compromised through the utilization of glucocorticoids amid his cancer management, were likely conducive to the migration of the parasitic organisms beneath the cutaneous layer.
10. Unique tooth-in-eye surgical operation implemented
A distinct autoimmune condition compromised a man’s corneas, substantially impeding his visual perception. Clinicians attempted an osteo-odonto-keratoprosthesis, otherwise known as “tooth-in-eye surgery,” to facilitate the restoration of sight within one of the eyes. The process encompasses evulsing one of the patient’s dental components and implanting it within their orbital cavity, wherein it functions as a groundwork for a perspicuous plastic lens. The lens supplants the compromised cornea and permits the transmission of light into the eye. The man’s efficacious procedure represented the premier of its type within Canada.
11. “Muscle-plumping” injections induced calcium surge
A man was evaluated at a medical facility apropos of having undergone debility and emesis. Examinations performed therein indicated renal dysfunction and an excessive blood calcium level. Physical examinations and assessment images revealed abnormalities pertaining to the man’s upper-arm and thoracic muscles — principally, superdense calcification sites. It transpired that the man had formerly undergone injections involving silicone-resembling, oil-based constituents to improve the aesthetic appeal of his musculature. In this particular scenario, the injections incited an enduring foreign-body response, precipitating substantial scarring and calcification within the muscle tissue, thereby permeating calcium into the circulation.
12. Scientist acquires plague through debilitated microbesADDITIONAL QUANDARIES
—An individual maintained a persistent bleach gustatory sensation — and medical professionals uncovered a concealed etiological aspect within her bloodstream
—A deficient penile depiction left a person with enduring semi-erection
—Expeditious ingestion of a 7-pound hamburger resulted in an individual’s emergency visit, precluding flatus emission
A laboratory employee experienced an infectious state which, notwithstanding medical care, regrettably culminated in fatality. His treating doctors were notified that the patient had been managing a mitigated strain of Yersinia pestis, which comprises the plague-inducing bacterium. It had been formerly perceived that this weakened instantiation of the pathogen was innocuous; regardless, the afflicted individual contracted the ailment. Secondary analyses divulged atypical elevations pertaining to iron concentration in the patient’s blood. One of the methodologies employed for the attenuation of the plague bacterium encompassed ablation of its pivotal gene governing iron uptake — the patient’s iron-replete blood may have consequently facilitated the pathogen’s capacity to transcend the attenuation and cultivate a lethal infection.
Browse through our Diagnostic Quandary repositories for supplementary captivating medical scenarios.
Disclaimer
This write-up furnishes solely informational perspectives and does not constitute healthcare recommendations.
TOPICSDiagnostic quandary
Nicoletta LaneseHealth Channel Manager
Nicoletta Lanese, editor of the health channel for Live Science, was priorly a reporter and newswire at the site. She attained a post-graduate qualification regarding science communications from UC Santa Cruz, further to procuring degrees over neuroscience alongside ballet originating from the University of Florida. The Scientist, Science News, Mercury News, Mongabay plus the Stanford Medicine Magazine hold segments of her work, among alternative outputs. Residing over NYC, she upholds substantial participation amid dance alongside displays during labor by local dramaturgs.
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